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| Mendeliome v1.4098 | NOD2 | Zornitza Stark Phenotypes for gene: NOD2 were changed from Blau syndrome, MIM# 186580 to Blau syndrome, MIM# 186580; {Inflammatory bowel disease 1, Crohn disease} 266600; {Yao syndrome} 617321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4097 | NOD2 | Zornitza Stark Publications for gene: NOD2 were set to 15459013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4096 | NOD2 | Zornitza Stark Mode of inheritance for gene: NOD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4095 | NOD2 |
Zornitza Stark edited their review of gene: NOD2: Added comment: PMID 33692434 reports 92 unrelated families with biallelic loss‑of‑function NOD2 variants causing early‑onset Crohn’s disease. Yao syndrome (YAOS) is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. PMID 39372397 describes 152 adult‑onset Yao syndrome patients, many carrying the cis‑regulatory IVS8+158 variant that shows functional gain‑of‑function.; Changed publications: 15459013, 11385576, 17804789, 32463623, 33692434, 39372397; Changed phenotypes: Blau syndrome, MIM# 186580, {Inflammatory bowel disease 1, Crohn disease} 266600, {Yao syndrome} 617321; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Mendeliome v0.3859 | NOD2 | Zornitza Stark Marked gene: NOD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3859 | NOD2 | Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3859 | NOD2 | Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3858 | NOD2 | Zornitza Stark Publications for gene: NOD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3857 | NOD2 | Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3856 | NOD2 | Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | NOD2 |
Zornitza Stark gene: NOD2 was added gene: NOD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NOD2 was set to Unknown |
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